Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Mitophagy is a fundamental quality control mechanism of mitochondria. Its regulatory
mechanisms and pathological implications remain poorly understood. Here, via a …

The ubiquitin proteasome system (UPS) regulates many cellular functions by degrading key
proteins. Notably, the role of UPS in regulating mitochondrial metabolic functions is unclear …

Mitochondria are complex organelles that harbour their own genome. Mitochondrial DNA
(mtDNA) exists in the form of a circular double-stranded DNA molecule that must be …

Mitochondria do not exist as individual entities in the cell—conversely, they constitute an
interconnected community governed by the constant and opposite process of fission and …

Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause
autosomal recessive early-onset Parkinson's disease (PD). Extensive in vitro and in vivo …

Pathogenic variants in FBXL 4 cause a severe encephalopathic syndrome associated with
mt DNA depletion and deficient oxidative phosphorylation. To gain further insight into the …

The dynamic nature of mitochondria, which can fuse, divide and move throughout the cell,
allows these critical organelles to adapt their function in response to cellular demands, and …